메뉴 건너뛰기




Volumn 98, Issue 23, 2006, Pages 1675-1677

BRCA mutation frequency and penetrance: New data, old debate

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA;

EID: 33845659623     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djj500     Document Type: Editorial
Times cited : (40)

References (39)
  • 1
    • 0037151382 scopus 로고    scopus 로고
    • On the use of familial aggregation in population-based case probands for calculating penetrance
    • Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2002;94:1221-6.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1221-1226
    • Begg, C.B.1
  • 2
    • 0037271914 scopus 로고    scopus 로고
    • Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    • Amos CR. Re: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2003;95:74-5.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 74-75
    • Amos, C.R.1
  • 3
    • 0037248714 scopus 로고    scopus 로고
    • Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    • Risch H, Narod S. Re: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2003;95:73-4.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 73-74
    • Risch, H.1    Narod, S.2
  • 4
    • 0037268759 scopus 로고    scopus 로고
    • Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    • Pharoah PP, Antoniou A, Hopper J, Easton D. Re: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2003;95:75-6.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 75-76
    • Pharoah, P.P.1    Antoniou, A.2    Hopper, J.3    Easton, D.4
  • 5
    • 0037264994 scopus 로고    scopus 로고
    • Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    • Whittemore AS, Gong G. Re: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2003;95:76-7.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 76-77
    • Whittemore, A.S.1    Gong, G.2
  • 6
    • 0037264746 scopus 로고    scopus 로고
    • Re: On the use of familial aggregation in population-based case probands for calculating penetrance
    • Burke W, Austin MA. Re: On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2003;95: 78-9.
    • (2003) J Natl Cancer Inst , vol.95 , pp. 78-79
    • Burke, W.1    Austin, M.A.2
  • 9
    • 33644629647 scopus 로고    scopus 로고
    • Re: Breast cancer risks for BRCA1/2 carriers
    • New York Breast Cancer Study Group
    • King MC; New York Breast Cancer Study Group. Re: Breast cancer risks for BRCA1/2 carriers. Science 2004;306:2188-91.
    • (2004) Science , vol.306 , pp. 2188-2191
    • King, M.C.1
  • 10
    • 13744263782 scopus 로고    scopus 로고
    • Hereditary cancer predisposition syndromes
    • Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol 2005;23:276-92.
    • (2005) J Clin Oncol , vol.23 , pp. 276-292
    • Garber, J.E.1    Offit, K.2
  • 11
    • 15544381256 scopus 로고    scopus 로고
    • Prevention and management of hereditary breast cancer
    • Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol 2005;23:1656-63.
    • (2005) J Clin Oncol , vol.23 , pp. 1656-1663
    • Narod, S.A.1    Offit, K.2
  • 12
    • 33845654907 scopus 로고    scopus 로고
    • Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada
    • Risch HA, McLaughlin JR, Cole DEC, Rosen B, Bradley L, Fan I, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006;98:1694-706.
    • (2006) J Natl Cancer Inst , vol.98 , pp. 1694-1706
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.C.3    Rosen, B.4    Bradley, L.5    Fan, I.6
  • 13
    • 0035098503 scopus 로고    scopus 로고
    • Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer
    • Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-10.
    • (2001) Am J Hum Genet , vol.68 , pp. 700-710
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3    Rosen, B.4    Bradley, L.5    Kwan, E.6
  • 14
    • 0035125062 scopus 로고    scopus 로고
    • Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • Thompson D, Easton D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001;68:410-9.
    • (2001) Am J Hum Genet , vol.68 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 15
    • 0037130887 scopus 로고    scopus 로고
    • Cancer incidence in BRCA1 mutation carriers. Breast Cancer Linkage Consortium
    • Thompson D, Easton DF. Cancer incidence in BRCA1 mutation carriers. Breast Cancer Linkage Consortium. J Natl Cancer Inst 2002;94:1358-65.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1358-1365
    • Thompson, D.1    Easton, D.F.2
  • 16
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium
    • Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999;91:1310-6.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 19
    • 26644438107 scopus 로고    scopus 로고
    • Population-based family studies in genetic epidemiology
    • Hopper JL, Bishop DT, Easton DF. Population-based family studies in genetic epidemiology. Lancet 2005;366:1397-406.
    • (2005) Lancet , vol.366 , pp. 1397-1406
    • Hopper, J.L.1    Bishop, D.T.2    Easton, D.F.3
  • 20
    • 0028330276 scopus 로고
    • Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994;343:692-5.
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.F.2    Bishop, D.T.3    Narod, S.A.4    Goldgar, D.E.5
  • 21
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995;56:265-71.
    • (1995) Am J Hum Genet , vol.56 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 22
    • 7744225684 scopus 로고    scopus 로고
    • Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations
    • Marroni F, Aretini P, D'Andrea E, Caligo MA, Cortesi L, Viel A, et al. Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. Eur J Hum Genet 2004;12:899-906.
    • (2004) Eur J Hum Genet , vol.12 , pp. 899-906
    • Marroni, F.1    Aretini, P.2    D'Andrea, E.3    Caligo, M.A.4    Cortesi, L.5    Viel, A.6
  • 23
    • 0031025322 scopus 로고    scopus 로고
    • Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three U.S. population-based case-control studies of ovarian cancer
    • Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 1997;60:496-504.
    • (1997) Am J Hum Genet , vol.60 , pp. 496-504
    • Whittemore, A.S.1    Gong, G.2    Itnyre, J.3
  • 24
    • 21744458567 scopus 로고    scopus 로고
    • Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France
    • Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, et al. Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France. Genes Chromosomes Cancer 2005;43:404-13.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 404-413
    • Bonadona, V.1    Sinilnikova, O.M.2    Chopin, S.3    Antoniou, A.C.4    Mignotte, H.5    Mathevet, P.6
  • 25
    • 0033740880 scopus 로고    scopus 로고
    • Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
    • Anglian Breast Cancer Study Group
    • Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 2000;83:1301-8.
    • (2000) Br J Cancer , vol.83 , pp. 1301-1308
  • 26
    • 0037471838 scopus 로고    scopus 로고
    • Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
    • Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, et al. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 2003;361:1101-2.
    • (2003) Lancet , vol.361 , pp. 1101-1102
    • Lalloo, F.1    Varley, J.2    Ellis, D.3    Moran, A.4    O'Dair, L.5    Pharoah, P.6
  • 27
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • New York Breast Cancer Study Group
    • King MC, Marks JH, Mandell JB. New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-6.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 28
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 2003;72: 1117-30.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6
  • 29
    • 0033591850 scopus 로고    scopus 로고
    • Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer
    • Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999;91:1241-7.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1241-1247
    • Warner, E.1    Foulkes, W.2    Goodwin, P.3    Meschino, W.4    Blondal, J.5    Paterson, C.6
  • 32
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-8.
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3    Baker, S.M.4    Berlin, M.5    McAdams, M.6
  • 33
    • 0032826284 scopus 로고    scopus 로고
    • Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study
    • Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev 1999;8:741-7.
    • (1999) Cancer Epidemiol Biomarkers Prev , vol.8 , pp. 741-747
    • Hopper, J.L.1    Southey, M.C.2    Dite, G.S.3    Jolley, D.J.4    Giles, G.G.5    McCredie, M.R.6
  • 34
    • 16944365740 scopus 로고    scopus 로고
    • Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
    • Easton DF, Steele L, Fields P, Ormiston W, Averil D, Daly PA, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997;61:120-8.
    • (1997) Am J Hum Genet , vol.61 , pp. 120-128
    • Easton, D.F.1    Steele, L.2    Fields, P.3    Ormiston, W.4    Averil, D.5    Daly, P.A.6
  • 36
    • 33845608598 scopus 로고    scopus 로고
    • Cancer risks in BRCA1 and BRCA2 mutation carriers
    • In: Rebbeck T, Isaacs C, editors. Informa. In press
    • Offit K, Thom P. Cancer risks in BRCA1 and BRCA2 mutation carriers. In: Rebbeck T, Isaacs C, editors. Hereditary breast cancer. Informa. In press 2007.
    • (2007) Hereditary Breast Cancer
    • Offit, K.1    Thom, P.2
  • 39
    • 4544261969 scopus 로고    scopus 로고
    • Breast MRI for women with hereditary cancer risk
    • Robson ME, Offit K. Breast MRI for women with hereditary cancer risk. JAMA 2004;292:1368-70.
    • (2004) JAMA , vol.292 , pp. 1368-1370
    • Robson, M.E.1    Offit, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.